Total 22 pathogenic variants reported for Congenital insensitivity to pain-hypohidrosis syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn) SNV
Germline		 Chr9:130666689 Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome No Assertion Criteria Provided
 CA10586201 rs_879255636

1 SubmittersRCV000239476
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr) SNV
Germline		 Chr9:130664744 Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome No Assertion Criteria Provided
 CA10586202 rs_879255637

1 SubmittersRCV000239529
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) SNV
Germline		 Chr9:130668259 Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome Criteria Provided
Single Submitter
 CA10586203 rs_755205487

2 SubmittersRCV000239564
NM_021619.3(PRDM12):c.866A>T (p.His289Leu) SNV
Germline		 Chr9:130681431 Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome No Assertion Criteria Provided
 CA10586204 rs_879255638

1 SubmittersRCV000239481
NM_021619.3(PRDM12):c.607G>A (p.Gly203Arg) SNV
Germline		 Chr9:130678565 Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5284604 rs_375887892

2 SubmittersRCV000706791RCV002352217
NM_021619.3(PRDM12):c.224-1G>A SNV
Germline		 Chr9:130666607 Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome Criteria Provided
Single Submitter
 CA375246110 rs_2132588902

1 SubmittersRCV001385116
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly) SNV
Germline		 Chr9:130681307 Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA375244555 rs_2132608027

2 SubmittersRCV001563585RCV001658296
NM_021619.3(PRDM12):c.788G>A (p.Arg263His) SNV
Germline		 Chr9:130681353 Conflicting classifications of pathogenicity Condition: not provided
Congenital insensitivity to pain-hypohidrosis syndrome		 Criteria Provided
Conflicting Classifications
 CA375244687 rs_2132608078

2 SubmittersRCV001655904RCV001563586
NM_021619.3(PRDM12):c.785T>G (p.Met262Arg) SNV
Germline		 Chr9:130681350 Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome Criteria Provided
Single Submitter
 CA375244680 rs_2132608070

1 SubmittersRCV001805751
NM_021619.3(PRDM12):c.683-1G>A SNV
Germline		 Chr9:130681247 Likely pathogenic Congenital insensitivity to pain-hypohidrosis syndrome No Assertion Criteria Provided
 CA375244363 rs_2132607877

1 SubmittersRCV001843830
NM_021619.3(PRDM12):c.980G>C (p.Ser327Thr) SNV
Germline		 Chr9:130681545 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital insensitivity to pain-hypohidrosis syndrome		 Criteria Provided
Conflicting Classifications
 CA5284679 rs_747995562

2 SubmittersRCV002372947RCV002159935
NM_021619.3(PRDM12):c.381G>A (p.Val127=) SNV
Germline		 Chr9:130666765 Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA200649520 rs_920723962

2 SubmittersRCV002143656RCV003992618
NM_021619.3(PRDM12):c.455C>A (p.Ala152Asp) SNV
Germline		 Chr9:130668198 Likely pathogenic Congenital insensitivity to pain-hypohidrosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005250538